Canonical Allele Identifier: CA414132412

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938051A>C (hg19) ; chrX:g.108694821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694821A>C , CM000685.2:g.108694821A>C	GRCh38
NC_000023.10:g.107938051A>C , CM000685.1:g.107938051A>C	GRCh37
NC_000023.9:g.107824707A>C	NCBI36
NG_011977.1:g.259898A>C
NG_011977.2:g.259898A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4721A>C MANE Select	ENSP00000331902.7:p.Glu1574Ala
ENST00000361603.7:c.4703A>C	ENSP00000354505.2:p.Glu1568Ala
ENST00000510690.2:n.1215A>C
ENST00000644079.1:n.1207A>C
ENST00000328300.10:c.4721A>C	ENSP00000331902.6:p.Glu1574Ala
ENST00000361603.6:c.4703A>C	ENSP00000354505.2:p.Glu1568Ala
ENST00000504541.1:c.119A>C	ENSP00000424845.1:p.Glu40Ala
ENST00000515658.1:c.325-1476A>C
NM_000495.4:c.4703A>C	NP_000486.1:p.Glu1568Ala
NM_033380.2:c.4721A>C	NP_203699.1:p.Glu1574Ala
XM_005262070.2:c.4712A>C	XP_005262127.1:p.Glu1571Ala
XM_006724616.2:c.4721A>C	XP_006724679.1:p.Glu1574Ala
XM_011530849.1:c.4397A>C	XP_011529151.1:p.Glu1466Ala
XM_011530851.1:c.2294A>C	XP_011529153.1:p.Glu765Ala
XM_011530849.2:c.4736A>C	XP_011529151.2:p.Glu1579Ala
XM_017029259.2:c.4727A>C	XP_016884748.1:p.Glu1576Ala
XM_017029260.1:c.4718A>C	XP_016884749.1:p.Glu1573Ala
XM_017029263.2:c.3056A>C	XP_016884752.1:p.Glu1019Ala
NM_000495.5:c.4703A>C	NP_000486.1:p.Glu1568Ala
NM_033380.3:c.4721A>C MANE Select	NP_203699.1:p.Glu1574Ala